pagine 324-331 di Neuron (Download Smith B TUBA4A Neuron 2014 )
The results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein. Analysis of a further 272 FALS cases and 5,510 internal controls confirmed the overrepresentation as statistically significant and replicable. Functional analyses revealed that TUBA4A mutants destabilize the microtubule network, diminishing its repolymerization capability.
These results further emphasize the role of cytoskeletal defects in ALS and demonstrate the power of gene-based rare variant analyses in situations where causal genes cannot be identified through traditional segregation analysis.
questa ricerca, in parte anche italiana, è un passo nella direzione di soluzione per la SLA.
almeno in USA una parte delle secchiate serviranno a finanziare anche questi laboratori.
non così delle italiche secchiate per italici laboratori…
